ClinVar Miner

Submissions for variant NM_201384.3(PLEC):c.3638G>A (p.Arg1213His)

gnomAD frequency: 0.00001  dbSNP: rs782011338
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517017 SCV000614621 uncertain significance not specified 2016-08-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001246525 SCV001419884 uncertain significance Epidermolysis bullosa simplex 5B, with muscular dystrophy; Epidermolysis bullosa simplex, Ogna type; Epidermolysis bullosa simplex 5C, with pyloric atresia; Autosomal recessive limb-girdle muscular dystrophy type 2Q; Epidermolysis bullosa simplex with nail dystrophy 2022-07-19 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Not Available"; Align-GVGD: "Class C25"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. ClinVar contains an entry for this variant (Variation ID: 448061). This variant has not been reported in the literature in individuals affected with PLEC-related conditions. This variant is present in population databases (rs782011338, gnomAD 0.008%). This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1240 of the PLEC protein (p.Arg1240His).
Ambry Genetics RCV002525065 SCV003555072 uncertain significance Inborn genetic diseases 2022-10-04 criteria provided, single submitter clinical testing The c.3719G>A (p.R1240H) alteration is located in exon 28 (coding exon 27) of the PLEC gene. This alteration results from a G to A substitution at nucleotide position 3719, causing the arginine (R) at amino acid position 1240 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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